ЗАЛЕЖНІСТЬ ПРИРОСТУ ПРИБУТКУ ШАХТИ ВІД ПРИРОСТУ ВИДОБУТКУ ВУГІЛЛЯ ПРИ ПРОВЕДЕННІ ШТРЕКІВ ШИРОКИМ ВИБОЄМ

Розглянуто питання впливу чинників на ефективність проведення виробок широким вибоєм. Визначено приріст видобутку вугілля на прибуток шахти.; Influence of factors on efficiency of leadthrough of making a wide b ackwall is considered. Increase of coal production on the income of mine is analyzed

Regionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome)

Human patients with myoclonic epilepsy with ragged-red fibers (MERRF) suffer from regionalized pathology caused by a mutation in the mitochondrial DNA (m.8344A→G). In MERRF-syndrome brain and skeletal muscles are predominantly affected, despite mtDNA being present in any tissue. In the past such tissue-specificity could not be explained by varying mtDNA mutation loads. In search for a region-specific pathology in human individuals we determined the mtDNA/nDNA ratios along with the mutation loads in 43 different post mortem tissue samples of a 16-year-old female MERRF patient and in four previously healthy victims of motor vehicle accidents. In brain and muscle we further determined the quantity of mitochondrial proteins (COX subunits II and IV), transcription factors (NRF1 and TFAM), and VDAC1 (Porin) as a marker for the mitochondrial mass. In the patient the mutation loads varied merely between 89–100%. However, mtDNA copy numbers were increased 3–7 fold in predominantly affected brain areas (e.g. hippocampus, cortex and putamen) and in skeletal muscle. Similar increases were absent in unaffected tissues (e.g. heart, lung, kidney, liver, and gastrointestinal organs). Such mtDNA copy number increase was not paralleled by an augmentation of mitochondrial mass in some investigated tissues, predominantly in the most affected tissue regions of the brain. We thus conclude that “futile” stimulation of mtDNA replication per se or a secondary failure to increase the mitochondrial mass may contribute to the regionalized pathology seen in MERRF-syndrome

Congenital microcephaly-linked CDK5RAP2 affects eye development

Biallelic mutations in the cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2 cause autosomal recessive primary microcephaly type 3 (MCPH3). MCPH is characterized by intellectual disability and microcephaly at birth, classically without further organ involvement. Only recently, congenital cataracts were reported in four patients of one pedigree with MCPH3. Given the lack of a further pedigree with this phenotype, it remained unclear whether this was a true causal relationship. Here we support the link between CDK5RAP2 and eye development by showing that most Cdk5rap2 mutant mice (an/an) exhibit eye malformations ranging from reduced size of one or both eyes (microphthalmia) to total absence of both eyes (anophthalmia). We also detected increased apoptosis in the an/an retinal progenitor cells associated with more mitotic cells. This indicates an important role of Cdk5rap2 in physiologic eye development.This work was supported by the German Research Foundation (DFG, SFB665, SFB1315), the Helmholtz Association by the Berlin Institute of Health (BIH), the German Academic Exchange Service (DAAD), and the Charité – Universitätsmedizin Berlin

CDK5RAP2 Is Required to Maintain the Germ Cell Pool during Embryonic Development

Gene products linked to microcephaly have been studied foremost for their role in brain development, while their function in the development of other organs has been largely neglected. Here, we report the critical role of Cdk5rap2 in maintaining the germ cell pool during embryonic development. We highlight that infertility in Cdk5rap2 mutant mice is secondary to a lack of spermatogenic cells in adult mice as a result of an early developmental defect in the germ cells through mitotic delay, prolonged cell cycle, and apoptosis

In Vitro Populations of Rotifer Brachionus plicatilis Müller Demonstrate Inhibition When Fed with Copper-Preaccumulating Microalgae

6 páginas, 2 figuras, 5 tablas.Four marine microalgal species (Chlorella autotrophyca, Nannochloropsis gaditana, Tetraiselmis chuii, and Isochrysis aff. galbana) were exposed for 24 h to 1 mg L−1 dissolved copper and then transferred to fresh medium. After that, a group of 10 neonate rotifers were fed with these four microalgal species. The levels of accumulated copper in cellular concentrations of the microalgae were checked, with the result of around 40% of original concentration, with the exception of I. aff. galbana (25% of original concentration). In all cases, cells with preaccumulated metal caused a delay of 1 or 2 days in populational development of rotifers (increase in “lag phase”). The microalgae that were not fed to rotifers (disposed in parallel series) did not significantly transfer metal to the medium after the first day.Peer reviewe